119 citations
,
August 2010 in “Journal of Investigative Dermatology” Increased 11β-HSD1 activity in skin may contribute to aging and could be targeted to reduce aging effects.
2 citations
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May 2022 in “The journal of immunology/The Journal of immunology” BST2 protein and certain T cells increase in early alopecia areata.
Individualized treatments may help manage Dercum's disease symptoms.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Transglutaminase 2 may control sebocyte maturation and lipid metabolism.
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
1 citations
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October 2024 in “JCEM Case Reports” 5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
ETS2 is crucial in squamous cell carcinoma development and could be a therapeutic target.
1 citations
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October 2025 in “International Journal of Molecular Sciences” Mutating the gmds gene in zebrafish increases hair cell numbers and regeneration.
March 2025 in “OncoTargets and Therapy” A specific genetic trait in tumor cells is linked to longer survival without disease in certain lymphoma patients.
26 citations
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December 2012 in “Bioanalysis” Dried blood spots can be as stable as frozen liquid samples for storing certain metabolites.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
Loss of Dnmt3a and Dnmt3b increases aggressive skin tumors by affecting PPAR-γ.
10 citations
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November 2023 in “Science Immunology” Super-enhancers control CD25 expression in specific cell types, affecting immune function.
9 citations
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April 2020 in “Journal of dermatology” A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
Arabidopsis Formin 2 stabilizes actin filaments to aid cell-to-cell trafficking.
3 citations
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September 2017 in “Stem cell investigation” PDGF signaling is crucial for maintaining fat stem cells in the skin, and its level of activation can either preserve these cells or cause fibrosis.
March 2024 in “Plant physiology” GLABRA 2 controls ethylene production to help root hair growth during nutrient deficiency.
August 2025 in “Journal of Polymer Science” AcD scaffolds improve tissue repair and regeneration by combining stem cells with a supportive matrix.
April 2018 in “Journal of Investigative Dermatology” DNMT3A is crucial for healthy skin and hair growth.
10 citations
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August 2023 in “The EMBO Journal” Kdm6b is crucial for skin cell differentiation.
39 citations
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January 2020 in “Frontiers in Genetics” PDGFC gene may help select goats with desirable curly wool traits.
1 citations
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October 2022 in “Molecular therapy” The FDA approved the first gene therapy for a blood disorder after overcoming early challenges and demonstrating patient benefits.
68 citations
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November 2012 in “Journal of Investigative Dermatology” Prostaglandin D2 blocks new hair growth after skin injury through the Gpr44 receptor.
January 2011 in “Junshi yixue” A mouse model for studying scleroderma in chronic graft-versus-host disease was successfully created.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
66 citations
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August 2007 in “Applied and environmental microbiology” The engineered yeast strain BLYAS can quickly and sensitively detect androgenic chemicals.
6 citations
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May 1997 in “Journal of Dermatological Science” Researchers found a gene in hamsters that responds to male hormones and may be indirectly controlled by them.
12 citations
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June 2019 in “Psychoneuroendocrinology” Allopregnanolone is needed for certain brain processing issues caused by D1 dopamine receptor activation.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.